Global Variome shared LOVD

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Phenotype #0000351443 Individual ID 00466058 Associated disease BOPS Phenotype details hirsutism, broad forehead, arched eyebrows, synophrys, exophthalmos, prominent and wide philtrum, thick lips, dental malalignment and retrognathia Diagnosis/Initial short stature, intellectual disability, dysmorphism Inheritance Unknown Diagnosis/Definite Bohring-Opitz syndrome Age/Examination 08y (8 years) Age/Diagnosis 16y Age/Onset 00y08m Phenotype/Onset short stature (HP:0004322), intellectual disability (HP:0010864), synophrys (HP:0000664), exophthalmos (HP:0000520) Protein - Owner name Miriam Erandi Reyna-Fabián Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Miriam Erandi Reyna-Fabián Date created 2025-07-17 20:06:02 +02:00 (CEST) Date last edited 2025-08-01 17:02:27 +02:00 (CEST)

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